Items where Author is "Royer-Bertrand, Beryl"

2022

Quinodoz, Mathieu and Peter, Virginie G. and Cisarova, Katarina and Royer-Bertrand, Beryl and Stenson, Peter D. and Cooper, David N. and Unger, Sheila and Superti-Furga, Andrea and Rivolta, Carlo. (2022) Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. American Journal of Human Genetics (AJHG), 109 (3). pp. 457-470.

2021

Allou, Lila and Balzano, Sara and Magg, Andreas and Quinodoz, Mathieu and Royer-Bertrand, Beryl and Schöpflin, Robert and Chan, Wing-Lee and Speck-Martins, Carlos E. and Carvalho, Daniel Rocha and Farage, Luciano and Lourenço, Charles Marques and Albuquerque, Regina and Rajagopal, Srilakshmi and Nampoothiri, Sheela and Campos-Xavier, Belinda and Chiesa, Carole and Niel-Bütschi, Florence and Wittler, Lars and Timmermann, Bernd and Spielmann, Malte and Robson, Michael I. and Ringel, Alessa and Heinrich, Verena and Cova, Giulia and Andrey, Guillaume and Prada-Medina, Cesar A. and Pescini-Gobert, Rosanna and Unger, Sheila and Bonafé, Luisa and Grote, Phillip and Rivolta, Carlo and Mundlos, Stefan and Superti-Furga, Andrea. (2021) Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature, 592. pp. 93-98.

2020

Bastos, Filipa and Quinodoz, Mathieu and Addor, Marie-Claude and Royer-Bertrand, Beryl and Fodstad, Heidi and Rivolta, Carlo and Poloni, Claudia and Superti-Furga, Andrea and Roulet-Perez, Eliane and Lebon, Sebastien. (2020) Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. BMC neurology, 20 (1). p. 17.

Cisarova, Katarina and Folcher, Marc and El Zaoui, Ikram and Pescini-Gobert, Rosanna and Peter, Virginie G. and Royer-Bertrand, Beryl and Zografos, Leonidas and Schalenbourg, Ann and Nicolas, Michael and Rimoldi, Donata and Leyvraz, Serge and Riggi, Nicolò and Moulin, Alexandre P. and Rivolta, Carlo. (2020) Genomic and transcriptomic landscape of conjunctival melanoma. PLoS genetics, 16 (12). e1009201.

2017

Quinodoz, Mathieu and Royer-Bertrand, Beryl and Cisarova, Katarina and Di Gioia, Silvio Alessandro and Superti-Furga, Andrea and Rivolta, Carlo. (2017) DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. American Journal of Human Genetics, 101 (4). pp. 623-629.

Volpi, Stefano and Yamazaki, Yasuhiro and Brauer, Patrick M. and van Rooijen, Ellen and Hayashida, Atsuko and Slavotinek, Anne and Sun Kuehn, Hye and Di Rocco, Maja and Rivolta, Carlo and Bortolomai, Ileana and Du, Likun and Felgentreff, Kerstin and Ott de Bruin, Lisa and Hayashida, Kazutaka and Freedman, George and Marcovecchio, Genni Enza and Capuder, Kelly and Rath, Prisni and Luche, Nicole and Hagedorn, Elliott J. and Buoncompagni, Antonella and Royer-Bertrand, Beryl and Giliani, Silvia and Poliani, Pietro Luigi and Imberti, Luisa and Dobbs, Kerry and Poulain, Fabienne E. and Martini, Alberto and Manis, John and Linhardt, Robert J. and Bosticardo, Marita and Rosenzweig, Sergio Damian and Lee, Hane and Puck, Jennifer M. and Zúñiga-Pflücker, Juan Carlos and Zon, Leonard and Park, Pyong Woo and Superti-Furga, Andrea and Notarangelo, Luigi D.. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. Journal of Experimental Medicine, 214 (3). pp. 623-637.

2016

Bonafé, Luisa and Kariminejad, Ariana and Li, Jia and Royer-Bertrand, Beryl and Garcia, Virginie and Mahdavi, Shokouholsadat and Bozorgmehr, Bita and Lachman, Ralph L. and Mittaz-Crettol, Lauréane and Campos-Xavier, Belinda and Nampoothiri, Sheela and Unger, Sheila and Rivolta, Carlo and Levade, Thierry and Superti-Furga, Andrea. (2016) Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. Arthritis & rheumatology, 68 (9). pp. 2323-2327.

Royer-Bertrand, Beryl and Torsello, Matteo and Rimoldi, Donata and El Zaoui, Ikram and Cisarova, Katarina and Pescini-Gobert, Rosanna and Raynaud, Franck and Zografos, Leonidas and Schalenbourg, Ann and Speiser, Daniel and Nicolas, Michael and Vallat, Laureen and Klein, Robert and Leyvraz, Serge and Ciriello, Giovanni and Riggi, Nicolò and Moulin, Alexandre P. and Rivolta, Carlo. (2016) Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing. American Journal of Human Genetics, 99 (5). pp. 1190-1198.

Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776.

Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555.

van Karnebeek, Clara D. M. and Bonafé, Luisa and Wen, Xiao-Yan and Tarailo-Graovac, Maja and Balzano, Sara and Royer-Bertrand, Beryl and Ashikov, Angel and Garavelli, Livia and Mammi, Isabella and Turolla, Licia and Breen, Catherine and Donnai, Dian and Cormier-Daire, Valérie and Heron, Delphine and Nishimura, Gen and Uchikawa, Shinichi and Campos-Xavier, Belinda and Rossi, Antonio and Hennet, Thierry and Brand-Arzamendi, Koroboshka and Rozmus, Jacob and Harshman, Keith and Stevenson, Brian J. and Girardi, Enrico and Superti-Furga, Giulio and Dewan, Tammie and Collingridge, Alissa and Halparin, Jessie and Ross, Colin J. and Van Allen, Margot I. and Rossi, Andrea and Engelke, Udo F. and Kluijtmans, Leo A. J. and van der Heeft, Ed and Renkema, Herma and de Brouwer, Arjan and Huijben, Karin and Zijlstra, Fokje and Heise, Torben and Boltje, Thomas and Wasserman, Wyeth W. and Rivolta, Carlo and Unger, Sheila and Lefeber, Dirk J. and Wevers, Ron A. and Superti-Furga, Andrea. (2016) NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics, 48 (7). pp. 777-784.

Rivolta, Carlo and Royer-Bertrand, Beryl and Rimoldi, Donata and Schalenbourg, Ann and Zografos, Leonidas and Leyvraz, Serge and Moulin, Alexandre. (2016) UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation. Journal of human genetics, 61. pp. 361-362.

2015

Royer-Bertrand, Beryl and Castillo-Taucher, Silvia and Moreno-Salinas, Rodrigo and Cho, Tae-Joon and Chae, Jong-Hee and Choi, Murim and Kim, Ok-Hwa and Dikoglu, Esra and Campos-Xavier, Belinda and Girardi, Enrico and Superti-Furga, Giulio and Bonafé, Luisa and Rivolta, Carlo and Unger, Sheila and Superti-Furga, Andrea. (2015) Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Scientific Reports, 5. p. 17154.

Segarra, Nuria Garcia and Ballhausen, Diana and Crawford, Heather and Perreau, Matthieu and Campos-Xavier, Belinda and van Spaendonck-Zwarts, Karin and Vermeer, Cees and Russo, Michel and Zambelli, Pierre-Yves and Stevenson, Brian and Royer-Bertrand, Beryl and Rivolta, Carlo and Candotti, Fabio and Unger, Sheila and Munier, Francis L. and Superti-Furga, Andrea and Bonafé, Luisa. (2015) NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. American journal of medical genetics. Part A, 167A (12). pp. 2902-2912.

Royer-Bertrand, Beryl and Rivolta, Carlo. (2015) Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. Cellular and Molecular Life Sciences, 72 (8). pp. 1463-1471.